Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient

被引：0

作者：

Takada, Rei ^{[1
]}

Tozawa, Takenori ^{[1
]}

Yamanaka, Takumi ^{[2
]}

Moroto, Masaharu ^{[3
]}

Iehara, Tomoko ^{[1
]}

Chiyonobu, Tomohiro ^{[4
]}

机构：

[1] Kyoto Prefectural Univ Med, Dept Pediat, Kyoto, Japan

[2] Kyoto Prefectural Univ Med, Dept Neurosurg, Kyoto, Japan

[3] Fukuchiyama City Hosp, Dept Pediat, Kyoto, Japan

[4] Kyoto Prefectural Univ Med, Grad Sch Med Sci, Dept Mol Diagnost & Therapeut, Kyoto, Japan

来源：

HUMAN GENOME VARIATION | 2024年 / 11卷 / 01期

关键词：

HYPERPLASIA;

D O I：

10.1038/s41439-024-00268-x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Previous reports have shown that a gain of the chromosome 9 short arm (9p) is associated with choroid plexus hyperplasia (CPH). Furthermore, CPH can lead to communicating hydrocephalus; however, no cases of CPH with 9p gain requiring choroid plexus resection have been reported. Here, we describe the first case in which a 9p hexasomy/tetrasomy mosaic patient required choroid plexus resection for hydrocephalus. This finding suggested that the 9p copy number is correlated with CPH severity.

引用

页数：4

共 50 条

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